Effectiveness of sequencing selected exons of DNAH5 and DNAI1 in diagnosis of primary ciliary dyskinesia. (Q54319348)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22416021%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

title

Effectiveness of sequencing selected exons of DNAH5 and DNAI1 in diagnosis of primary ciliary dyskinesia (English)

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25 January 2020

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primary ciliary dyskinesia

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5

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25 January 2020

Karel Hrach

3

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25 January 2020

Jiří Uhlík

4

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25 January 2020

author name string

Jana Djakow

1

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25 January 2020

Tamara Svobodová

2

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25 January 2020

Petr Pohunek

6

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publication date

13 March 2012

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25 January 2020

published in

Pediatric Pulmonology

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25 January 2020

volume

47

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issue

9

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25 January 2020

page(s)

864-875

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Genetic causes of bronchiectasis: primary ciliary dyskinesia

25 January 2020

cites work

1 reference

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Diagnosing primary ciliary dyskinesia

21 January 2018

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RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa

21 January 2018

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Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry

21 January 2018

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DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects

21 January 2018

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Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia.

21 January 2018

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https://api.crossref.org/works/10.1002%2FPPUL.22520

Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation

21 January 2018

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Mutations in DNAI1 (IC78) cause primary ciliary dyskinesia

21 January 2018

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Population specificity of the DNAI1 gene mutation spectrum in primary ciliary dyskinesia (PCD).

21 January 2018

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Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FPPUL.22520

Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FPPUL.22520

DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm

21 January 2018

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A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia

21 January 2018

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Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins

21 January 2018

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Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects

21 January 2018

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CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs

21 January 2018

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The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation

21 January 2018

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Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FPPUL.22520

Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia.

21 January 2018

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High prevalence of primary ciliary dyskinesia in a British Asian population

21 January 2018

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Functional analysis of cilia and ciliated epithelial ultrastructure in healthy children and young adults

21 January 2018

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Ciliary beat pattern is associated with specific ultrastructural defects in primary ciliary dyskinesia

21 January 2018

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Diagnostic testing of patients suspected of primary ciliary dyskinesia

21 January 2018

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Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children.

21 January 2018

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Nasal nitric oxide in atypical primary ciliary dyskinesia.

21 January 2018

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Nasal nitric oxide to diagnose primary ciliary dyskinesia in newborns

21 January 2018

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TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FPPUL.22520

Prediction of deleterious human alleles

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FPPUL.22520

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FPPUL.22520

Axonemal localization of the dynein component DNAH5 is not altered in secondary ciliary dyskinesia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FPPUL.22520

Mislocalization of DNAH5 and DNAH9 in respiratory cells from patients with primary ciliary dyskinesia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FPPUL.22520

Genetic defects in ciliary structure and function

21 January 2018

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Primary ciliary dyskinesia: when to suspect the diagnosis and how to confirm it.

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/PPUL.22520

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22416021%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

1 reference